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Found 8 publications

Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family.

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

The bacterial toxin ExoU requires a host trafficking chaperone for transportation and to induce necrosis.

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2).

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.

Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2.

Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: Results from a Phase 1/2 study.

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

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